Significance of KLK7 expression, polymorphisms, and function in sheep horn growth

Abstract Background Sheep horns play a critical role in the survival and reproduction of sheep. Research on sheep horns not only aids in comprehending their biological roles but is also vital for developing hornless breeds. Although previous studies have suggested that KLK7 may be associated with ke...

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Main Authors: Mingzhu Shan, Hao Li, Xinyue Li, Guoqing Zhang, Jianxin Shi, Pingjie Feng, Lisheng Zhou, Zhangyuan Pan, Mingxing Chu
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Genomics
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Online Access:https://doi.org/10.1186/s12864-024-11130-3
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author Mingzhu Shan
Hao Li
Xinyue Li
Guoqing Zhang
Jianxin Shi
Pingjie Feng
Lisheng Zhou
Zhangyuan Pan
Mingxing Chu
author_facet Mingzhu Shan
Hao Li
Xinyue Li
Guoqing Zhang
Jianxin Shi
Pingjie Feng
Lisheng Zhou
Zhangyuan Pan
Mingxing Chu
author_sort Mingzhu Shan
collection DOAJ
description Abstract Background Sheep horns play a critical role in the survival and reproduction of sheep. Research on sheep horns not only aids in comprehending their biological roles but is also vital for developing hornless breeds. Although previous studies have suggested that KLK7 may be associated with keratin growth, there are few studies that have focused on the role of KLK7 in sheep horns. This study aims to elucidate the relationship between KLK7 and sheep horns by analyzing the expression, genetic polymorphisms, and potential functions of KLK7 in sheep horns. Results This study utilized RNA sequencing (RNA-Seq) data to analyze the expression levels of the KLK7 gene across different species, as well as among different breeds, tissue types, and genders in sheep. Potential functional sites of KLK7 were explored using whole-genome sequencing (WGS) data. Allele specific expression sites in the KLK7 gene sequence were identified. Finally, the WGS data were linked with sheep horn length for association analysis, and significantly different single-nucleotide polymorphisms (SNPs) were detected and validated by Kompetitive Allele Specific PCR (KASP) genotyping. Conclusion Our results demonstrate that KLK7 was highly expressed in soft horn and skin tissues, and its expression was significantly higher in small-horned sheep than it was in large-horned sheep, suggesting that KLK7 may have an inhibitory effect on horn growth. By comparing the amino acid sequence of KLK7 with KLK7 sequences in other species, we discovered eight amino acids at specific positions in the KLK7 protein sequence that may have regulatory functions in determining the size of horns in ruminant animals. Thirteen SNPs with F-statistic value (Fst) > 0.15 were identified. By integrating RNA-Seq and WGS data, we discovered two SNPs (g.56695395 T > C and g.56695484A > C) with allele specific expression between the large- and small-horned sheep. The two SNPs were validated and were found to have significantly different (P < 0.05) effects on horn length. Our findings suggest a strong association between KLK7 and sheep horn length, indicating the potential role of KLK7 in inhibiting horn growth and providing novel insights into the functionality of KLK7.
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spelling doaj-art-4e098a03932846adbbd581b0c6e5a7dc2025-02-02T12:10:13ZengBMCBMC Genomics1471-21642025-01-0126111310.1186/s12864-024-11130-3Significance of KLK7 expression, polymorphisms, and function in sheep horn growthMingzhu Shan0Hao Li1Xinyue Li2Guoqing Zhang3Jianxin Shi4Pingjie Feng5Lisheng Zhou6Zhangyuan Pan7Mingxing Chu8State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)College of Animal Science and Technology, Qingdao Agricultural UniversityState Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS)Abstract Background Sheep horns play a critical role in the survival and reproduction of sheep. Research on sheep horns not only aids in comprehending their biological roles but is also vital for developing hornless breeds. Although previous studies have suggested that KLK7 may be associated with keratin growth, there are few studies that have focused on the role of KLK7 in sheep horns. This study aims to elucidate the relationship between KLK7 and sheep horns by analyzing the expression, genetic polymorphisms, and potential functions of KLK7 in sheep horns. Results This study utilized RNA sequencing (RNA-Seq) data to analyze the expression levels of the KLK7 gene across different species, as well as among different breeds, tissue types, and genders in sheep. Potential functional sites of KLK7 were explored using whole-genome sequencing (WGS) data. Allele specific expression sites in the KLK7 gene sequence were identified. Finally, the WGS data were linked with sheep horn length for association analysis, and significantly different single-nucleotide polymorphisms (SNPs) were detected and validated by Kompetitive Allele Specific PCR (KASP) genotyping. Conclusion Our results demonstrate that KLK7 was highly expressed in soft horn and skin tissues, and its expression was significantly higher in small-horned sheep than it was in large-horned sheep, suggesting that KLK7 may have an inhibitory effect on horn growth. By comparing the amino acid sequence of KLK7 with KLK7 sequences in other species, we discovered eight amino acids at specific positions in the KLK7 protein sequence that may have regulatory functions in determining the size of horns in ruminant animals. Thirteen SNPs with F-statistic value (Fst) > 0.15 were identified. By integrating RNA-Seq and WGS data, we discovered two SNPs (g.56695395 T > C and g.56695484A > C) with allele specific expression between the large- and small-horned sheep. The two SNPs were validated and were found to have significantly different (P < 0.05) effects on horn length. Our findings suggest a strong association between KLK7 and sheep horn length, indicating the potential role of KLK7 in inhibiting horn growth and providing novel insights into the functionality of KLK7.https://doi.org/10.1186/s12864-024-11130-3KLK7Sheep hornSNPsTissue-specificRNA-Seq
spellingShingle Mingzhu Shan
Hao Li
Xinyue Li
Guoqing Zhang
Jianxin Shi
Pingjie Feng
Lisheng Zhou
Zhangyuan Pan
Mingxing Chu
Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
BMC Genomics
KLK7
Sheep horn
SNPs
Tissue-specific
RNA-Seq
title Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
title_full Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
title_fullStr Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
title_full_unstemmed Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
title_short Significance of KLK7 expression, polymorphisms, and function in sheep horn growth
title_sort significance of klk7 expression polymorphisms and function in sheep horn growth
topic KLK7
Sheep horn
SNPs
Tissue-specific
RNA-Seq
url https://doi.org/10.1186/s12864-024-11130-3
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